A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5222



Internal ID15197299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49326058..49327631hg38UCSC Ensembl
OuterchrX:49182518..49184091hg19UCSC Ensembl
OuterchrX:49069462..49071035hg18UCSC Ensembl
OuterchrX:48938889..48940462hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3824415
hg1924415
hg1824415
hg1724415
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6896
Supporting Variants
SamplesNA19129
Known GenesGAGE12J
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv5222
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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